56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
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March 1996 in “PubMed” Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
12 citations
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September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
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June 2025 in “Journal of Veterinary Internal Medicine” The donkey had a severe disease affecting multiple organs and was euthanized.
50 citations
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May 1985 in “The journal of pediatrics/The Journal of pediatrics” Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
June 1987 in “Pediatric Neurology Briefs” Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
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December 2004 in “Nature Genetics”
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
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February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
245 citations
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January 2010 in “Blood” Antihepcidin antibodies may treat inflammation-induced anemia by improving iron metabolism.
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
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February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.
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April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
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September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
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September 2024 in “BMC Pulmonary Medicine” Cepharanthine may help treat lung fibrosis by affecting certain immune cells.
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
September 2019 in “Journal of Investigative Dermatology” PCE-DP brightens skin and promotes hair growth by enhancing cell growth and reducing melanin uptake.